MCID: ANG028
MIFTS: 15

Angioma Serpiginosum, Autosomal Dominant

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Angioma Serpiginosum, Autosomal Dominant

MalaCards integrated aliases for Angioma Serpiginosum, Autosomal Dominant:

Name: Angioma Serpiginosum, Autosomal Dominant 57 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
onset in childhood
slowly progressive
more common in women (90%)
usually a sporadic disorder
no male-to-male transmission
partially responsive to laser treatment
see also x-linked dominant form ()


HPO:

32
angioma serpiginosum, autosomal dominant:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course juvenile onset slow progression


Classifications:



External Ids:

OMIM 57 106050
MedGen 42 C1970130
UMLS 72 C1970130

Summaries for Angioma Serpiginosum, Autosomal Dominant

OMIM : 57 Angioma serpiginosum is an uncommon benign skin disorder characterized by asymptomatic clusters of nonpurpuric punctate erythematous lesions. The rash is asymptomatic but may lead to cosmetic problems and can be treated by laser therapy. Women are most commonly affected, and the disorder is most often sporadic, although rare families suggestive of autosomal dominant inheritance have been reported (Sandhu and Gupta, 2005). No male-to-male transmission has been described, but father-to-daughter transmissions are known. It has been suggested that the pattern of skin involvement may be due to cutaneous somatic mosaicism (Chen et al., 2006; Blinkenberg et al., 2007). An X-linked dominant form of angioma serpiginosum (300652) has been mapped. The few males described may actually represent somatic mosaicism of an X-linked gene. (106050)

MalaCards based summary : Angioma Serpiginosum, Autosomal Dominant Affiliated tissues include skin and endothelial, and related phenotype is hyperkeratosis.

Related Diseases for Angioma Serpiginosum, Autosomal Dominant

Diseases in the Angioma Serpiginosum family:

Angioma Serpiginosum, Autosomal Dominant

Symptoms & Phenotypes for Angioma Serpiginosum, Autosomal Dominant

Human phenotypes related to Angioma Serpiginosum, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 hyperkeratosis 32 HP:0000962

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin Histology:
hyperkeratosis
nests of dilated and thick-walled capillaries in the dermal papillae
inflammation is usually absent

Skin Nails Hair Skin Electron Microscopy:
slit-like protrusion of capillary lumen into the endothelial lining

Skin Nails Hair Skin:
non-purpuric punctate and linear erythematous rash
subepidermal capillary ectasia
lesions often follow blaschko lines
lesions occur on the trunk, back, arms, legs, abdomen, buttocks
extensive cutaneous involvement rarely occurs
more

Clinical features from OMIM:

106050

Drugs & Therapeutics for Angioma Serpiginosum, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Angioma Serpiginosum, Autosomal Dominant

Genetic Tests for Angioma Serpiginosum, Autosomal Dominant

Anatomical Context for Angioma Serpiginosum, Autosomal Dominant

MalaCards organs/tissues related to Angioma Serpiginosum, Autosomal Dominant:

41
Skin, Endothelial

Publications for Angioma Serpiginosum, Autosomal Dominant

Articles related to Angioma Serpiginosum, Autosomal Dominant:

# Title Authors PMID Year
1
Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. 8
17342156 2007
2
Angioma serpiginosum arranged in a systematized segmental pattern suggesting mosaicism. 8
17033175 2006
3
Angioma serpiginosum: report of two unusual cases. 8
15649209 2005
4
Linear angioma serpiginosum. 8
12657019 2003
5
[Angioma serpiginosum, a skin change along Blaschko lines?]. 8
8567268 1995
6
Angioma serpiginosum. 8
7451703 1980
7
Angioma serpiginosum--familial incidence. 8
1220816 1975

Variations for Angioma Serpiginosum, Autosomal Dominant

Expression for Angioma Serpiginosum, Autosomal Dominant

Search GEO for disease gene expression data for Angioma Serpiginosum, Autosomal Dominant.

Pathways for Angioma Serpiginosum, Autosomal Dominant

GO Terms for Angioma Serpiginosum, Autosomal Dominant

Sources for Angioma Serpiginosum, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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